Thursday, March 4, 2010

He's One Now But I Don't Feel Like Celebrating

Yusef turned one this past week. It’s been an extremely emotional time for me and I admit I’ve been depressed to the point of tears at times. I sometimes feel that I only post negative things on this blog, a fact that I hate. I also want to be an advocate for individuals with Down syndrome and I never want anyone visiting this blog to get the wrong idea. I don’t want to propogate the stereotype of children with DS suffering or their families being paralyzed with grief and medical issues. At the same time, I can’t just write out a lie.

This year has been difficult. However, much of the difficulties have had nothing to do with Ds, but rather his debilitating form of epilepsy called infantile spasms that have wreaked havoc on my every waking hour for the last eight months.
Children with Down syndrome no more likely to suffer from seizures than their typical peers. However, for those children that do have a seizure disorder, the likelihood of infantile spams being the type of epilepic disorder is much higher in children with DS than in the general population. Indeed, one of the risk factors for infantile spasms is chromosomal abnormalities.

The information out there on the internet regarding infantile spasms is incredibly scary and depressing. They are very difficult seizures to control and many of the articles will say that the prognosis is poor with this type of epilepsy. This means that most cases are intractable to current medicines and treatments and most children will have permanent developmental and cognitive delays. Of course, then I have to factor in Down syndrome, and well, I just feel bleak about my child's future and level of functioning he will be able to obtain.

While we have seen a reduction in seizure activity after our course of ACTH, and an increase in development, my Yusef has not had anywhere close to a total halt to these seizures. It’s very common to see him have at least a couple “spasms” i.e. seizures every day. Usually with no warning. If he happens to be sitting up in his excersaucer, he’ll have what is called a head drop meaning he loses all control of the muscles in his head and trunk and he’ll literally do a face plant on top of his tray and any toys that might be sitting there. This is, to say the least, traumatic to everyone involved.

My son is extremely delayed at this point. At one year old I see other babies with DS sitting, creeping, some even crawling, starting to talk or sign. Yusef is nowhere near sitting. He still doesn’t seem to socialize and smile as much as I would like to see. He’s only recently started rolling around consistently. I know people will say he’ll reach his milestones in his own time, but this is ridiculous. And so now I’m angry.

I’m angry at the neurologist for not being nearly aggressive enough with this. He just seems to blow everything off and want to continue the current treatment plan that we’re on which is not working! He is taking a wait and see approach and this is my child’s life, his future we’re talking about.

So my husband and I have talked about taking him to somewhere out of community to get another opinion, perhaps to Kansas City. As it turns out there is a second, brand new, pediatric neurologist in our community now! Our primary care pedi is in the process of setting up an appointment with him now and I should hear from them tomorrow.

There is still some hope. There are a couple different options that are promising. One is a med called Vigabatrin and the other is the ketogenic diet. Neither of which has our neurologist even mentioned. Not once. It took 5 months for him to even be on board with the ACTH which is a first line treatment, the gold standard really. I am done with this guy.

I’m pissed at myself for letting things go on for this long. I just kept thinking it would get better. The Zonegram helped which gave me hope. The ACTH helped quite a bit more which gave me more hope. But neither are enough. I want these seizures gone. Completely. And if I can’t have that, then at least I want the peace of mind in knowing that I did absolutely everything possible and that it is simply out of my hands.


Sonia said...

Happy Birthday Yusef!!! Hugs Stephanie...I offerp prayers. I hope the new neurologist will bring more hope.

Anisah said...

Salam alaykom

oh sis... I only have an inkling to what you are going through. ( my daughter has juvenile Rheumatoid Arthritis.)
I think you are doing the right thing by seeking out other ways to make this better. Bigger cities have more resources. If you can find a good Children's hospital..that would be great. They usually have a team on call to help u out and support you. Incha'Allah.
Remember that Allah has a plan for everything and all u are going through and the little guy is for a good reason and one day, you will know what that is. Incha'Allah.
EVERYTHING depends on ur outlook. His survival depends on ur way of dealing with this. I know it must be the hardest things ever to be positive and happy. But it's necessary for him.
maybe take one day at a time. like night before make a plan, maybe a check list. say to urself. ok tomorrow... I'm gonna do this and this and this. please make him a yummy b day cake :) just to see ur smile is going to do so much for him!
Hang in there sis. God untrusted you with this little soul. He did it for a reason. :) I am sure of it!

please have a nice day Incha'Allah. May Allah ease all your pain and hurt and help guide you to make everything better. Amine.

B. McKenzie said...

Thinking of you today and lifting up prayers and love for you and Yusef. I wish I could make you some tea and just let you cry...even though you have no clue who I am. I pray that today you find a smile and peace and that you get the answers you desire. And I pray that Yusef will get the care he needs QUICKLY! We have a little boy with DS as heart understands yours.

blessings to you and your family.

jennifergg said...

I love your blog.

I wanted to thank you for writing to me, and sharing part of your story, which I'm looking forward to reading more about, here.

I am always and truly amazed at what a big world this is, and also, at the same time, how small it is. All that we share, and all that we can learn from each other.

I'm so sorry to read about Yusef's seizures...I have another friend whose son had similar challenges and I know it's very tough, very hard to be the mama. I also know that KC has a very strong network of families with kids with DS. Can they help you? Can I help you find them?

Thank you, again. Please keep in touch!


Stacy aka Fahiima said...

There is definitely still hope, and I'm glad to see that you are willing to pursue all the options for Yusef. I would try the ketogenic diet once he gets less dependent on milk for his diet. I've heard some really positive things about it.
Happy birthday Yusef and blessings to your whole family!

Lisa said...

Oh, Stephanie. ((((( Hugs)))) mama. Listen, I have a friend I'd love to put you in touch with. She has a little boy, Cael, who has Ds, as well as a host of other medical issues, including infantile spasms. She's a little on the unconventional side, but she's fierce and very knowledgeable and I think she could be a great resource for you and a great source of support. Let me know if you are interested.

I do completely understand what you mean about the picture we portray to the world. Once you start blogging, you kind of feel a responsibility to show everyone that having a child with Ds isn't the nightmare that people seem to think it is. But it IS hard sometimes. Sometimes, it DOES break your heart. And it's okay to acknowledge that.

Tara said...

Oh, (((Stephanie))). I'm so sorry that your journey has been so hard this year. I wish you could celebrate that the seizures were under control. I think changing docs sounds like a very good move. Don't beat yourself up for taking your time with had no reason not to trust his doctor and did the best you could with the info you had!

Happy Birthday, Yusef! May this year be sooo much better!

UmmNaseem said...

If the new peds neurologist is who I'm thinking of, I've heard excellent things about him. Insha'Allah he'll be able to help Yusef better than the old one. It is very hard to find a doctor that's willing to be aggressive in treating children, especially children as young as Yusef is. I think this is especially true when the doctor you are working with does not have experience working in a Children's Hospital. The important thing is that you don't give up. Put your faith in Allah that you will be able to find something that will help Yusef and keep trying. As parents, you and your husband are the only advocates he has. I know it's not easy but Insha'Allah you can do it. I'm sending a HUGE hug your way along with my vote of confidence. You're a good mom, Stephanie. Call me if you need anything or just need a shoulder to cry on.

The Sanchez Family said...

Happy Birthday Yusef!

It's totally ok and encouraged to voice your feelings (good or bad) so that we can all support you. I have a friend who has a son with IS and she doesn't blog but if you need someone to talk to, I'd be happy to put you in touch.

The first year was SOOOO tough for her but her son who is now 3 1/2 is walking and talking now and the seizures are mostly controlled.

Big hug!!

Liz said...

Stephanie - Lisa from Finnian's journey alerted me to your post. My son too had IS and did not interact with us much for an entire year. He did not sit until 25 months either, but now he is doing really well - the spasms are gone and he is developing quite nicely and laughing and smiling all the time. I too thought he never would again.

His story can be found at

Vigabitrin was all he ever took for IS.

Let me know if you have questions. I'd be happy to help from a been there done that mama.


Bethany said...

I'm so sorry you guys have had to deal with IS. :( I have a few friends who have also had their child diagnosed with IS and it is very hard. A few of them have found success with a ketogenic diet ... have you guys explored that option? said...

Hi, just found your blog via another son has DS and developed IS/epilepsy at 9 months, he is 33 months now.

I can feel your pain. We did ACTH did not do a thing for him. I know you are busy/I'm busy but I you want to trade notes, feel free to reply to me. All the best!